Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.P301P
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A4GALT

NM_017436.7:p.P301P

Associated Papers

Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.

Gueuning M et al.

Blood Advances, 2026

41213005 (PubMed )
Supplement: BLOODA_ADV-2025-017463-mmc2.xlsx › Table11

Identification of a novel null allele A4GALT*02: c.457_463dup in one Chinese pedigree with the rare p phenotype and anti-PP1Pk.

Jin Y et al.

Transfusion, 2026

Unveiling Novel and Rare Variants in the α-1,4-Galactosyltransferase Gene Leading to Rare p Phenotype in Indian Patients.

Kshirsagar P et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2025

A case report of a rare p phenotype individual and a review of molecular biological analysis of p phenotype in the Chinese population.

Wei X et al.

Transfusion Medicine (oxford, England), 2025

Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual.

Li G et al.

American Journal of Medical Genetics. Part A, 2025

Homozygosity for a novel A4GALT allele resulting in the rare p phenotype in an Indian blood donor.

Tilley LA et al.

Vox Sanguinis, 2025

Identification of a novel A4GALT*299A allele associated with the rare p phenotype in one Chinese family.

Mo C et al.

Transfusion, 2024

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Prediction of various blood group systems using Korean whole-genome sequencing data.

Hyun J et al.

Plos One, 2022

35657818 (PubMed )
Supplement: pone.0269481.s003.xlsx › 003

A novel P1PK allele in two Bangladeshi sisters with a history of spontaneous abortion: A4GALT*02N(951C).

Floch A et al.

Transfusion, 2021

Novel A4GALT gene variation with rare p phenotype in a Chinese family.

Qiu F et al.

Transfusion, 2021

The synonymous 903C>G mutation in the alpha 1,4-galactosyltransferase gene in a Chinese woman with habitual abortion: A case report.

Lv X et al.

Medicine, 2019

The synonymous 903C>G mutation in the alpha 1,4-galactosyltransferase gene in a Chinese woman with habitual abortion: A case report: Erratum.

Unknown Author

Medicine, 2019

[Pedigree investigation and genetic analysis of a case with p blood group].

Liu YC et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

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